Canonical Allele Identifier: CA2573140814

Gene: DSP

Linked Data

• ClinVar Variation Id: 1429061
• ClinVar RCV Id: RCV001938745
• dbSNP Id: rs2113699152

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583205dup , CM000668.2:g.7583205dup	GRCh38
NC_000006.11:g.7583438dup , CM000668.1:g.7583438dup	GRCh37
NC_000006.10:g.7528437dup	NCBI36
NG_008803.1:g.46569dup , LRG_423:g.46569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4614dup	ENSP00000518230.1:p.Glu1539Ter
ENST00000379802.8:c.5943dup MANE Select	ENSP00000369129.3:p.Glu1982Ter
ENST00000379802.7:c.5943dup	ENSP00000369129.3:p.Glu1982Ter
ENST00000418664.2:c.4146dup	ENSP00000396591.2:p.Glu1383Ter
NM_001008844.1:c.4146dup	NP_001008844.1:p.Glu1383Ter
NM_004415.2:c.5943dup , LRG_423t1:c.5943dup	NP_004406.2:p.Glu1982Ter
XM_011514323.1:c.4614dup	XP_011512625.1:p.Glu1539Ter
NM_001008844.2:c.4146dup	NP_001008844.1:p.Glu1383Ter
NM_001319034.1:c.4614dup	NP_001305963.1:p.Glu1539Ter
NM_004415.3:c.5943dup	NP_004406.2:p.Glu1982Ter
NM_004415.4:c.5943dup MANE Select	NP_004406.2:p.Glu1982Ter
NM_001008844.3:c.4146dup	NP_001008844.1:p.Glu1383Ter
NM_001319034.2:c.4614dup	NP_001305963.1:p.Glu1539Ter